Cerebral folate deficiency

@article{Gordon2009CerebralFD,
  title={Cerebral folate deficiency},
  author={Neil S. Gordon},
  journal={Developmental Medicine \& Child Neurology},
  year={2009},
  volume={51}
}
  • N. Gordon
  • Published 1 March 2009
  • Medicine, Biology, Psychology
  • Developmental Medicine & Child Neurology
Cerebral folate deficiency (CFD) is associated with low levels of 5‐methyltetrahydrofolate in the cerebrospinal fluid (CSF) with normal folate levels in the plasma and red blood cells. The onset of symptoms caused by the deficiency of folates in the brain is at around 4 to 6 months of age. This is followed by delayed development, with deceleration of head growth, hypotonia, and ataxia, followed in one‐third of children by dyskinesias (choreo‐athetosis, hemiballismus), spasticity, speech… 
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37 Citations
Highly Influential Citations
1
Background Citations
9
Methods Citations
1

37 Citations

Folate Deficiency States
Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease
TLDR
This variation induces an altered folate receptor α protein and underlines the role of a disulfide bond: Cys66-Cys109, essential to transport 5-MTHF into the central nervous system.
Cerebral folate deficiency: a neurometabolic syndrome?
Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet
TLDR
While a response to folinic acid is well established in the disorder, the efficacy of its combination with the ketogenic diet needs further evaluation, but it is suggested considering it early in the course of drug resistant epilepsy in the setting of CFD.
Neonatal hydrocephalus is a result of a block in folate handling and metabolism involving 10‐formyltetrahydrofolate dehydrogenase
TLDR
It is indicated that FDH binds and transports methylfolate in the brain and that decreased liver and brain nuclear expression of FDH is linked with decreased DNA methylation which could be a key factor in the developmental deficits associated with congenital and neonatal HC.
The basis for folinic acid treatment in neuro-psychiatric disorders.
A folate receptor defect that causes treatable neurological disorder in children.
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism Steinfeld et al. (2009) The…
Laboratory assessment of folate (vitamin B9) status
TLDR
The evaluation of folate status using combined markers of abundance and cellular use has been adopted by some laboratories, and in the presence of discordance between laboratory results and strong clinical features of deficiency, treatment should not be delayed.
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
Methods for assessment of folate (Vitamin B9)
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References

SHOWING 1-10 OF 22 REFERENCES
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Cerebral folate deficiency
TLDR
A novel neurometabolic syndrome in 20 children resulted in a favourable clinical response in patients identified before the age of six years while partial recovery with poorer outcome was found beyond the Age of 6 years.
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid
The authors describe a 6-year-old girl with developmental delay, psychomotor regression, seizures, mental retardation, and autistic features associated with low CSF levels of…
Juvenile Onset Central Nervous System Folate Deficiency and Rheumatoid Arthritis
TLDR
Isolated cerebral folate deficiency was detected in a 13-year-old girl with cognitive and motor difficulties and juvenile rheumatoid arthritis and her spinal fluid contained 5-methyltetrahydrofolate as a consequence of the autoantibodies diminishing the uptake of this folate.
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.
TLDR
Serum from 25 of the 28 patients and 0 of 28 control subjects contained high-affinity blocking autoantibodies against membrane-bound folate receptors that are present on the choroid plexus, which normalized 5MTHF levels in the cerebrospinal fluid and led to clinical improvement.
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TLDR
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TLDR
Serum FR autoimmunity appears to represent an important factor in the pathogenesis of reduced folate transport to the nervous system among children with early-onset low-functioning autism associated with or without neurological deficits.
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TLDR
The case of a 48-year-old woman with a relapsing radial palsy which followed diarrheic episodes is reported and the effect of folate therapy on the neuropathy was spectacular.
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  • Medicine, Biology
    Pediatric neurology
  • 2007
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion
Our aim was to describe a child with an incomplete form of Kearns–Sayre syndrome who presented profound cerebrospinal fluid (CSF) folate deficiency and his response to folinic acid supplementation
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